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<meta name="keywords" content="C0266399, congenital abnormality, congenital hypoplasia of uterus, congenital small uterus, congenital uterine hypoplasia, hypoplasia of the uterus, hypoplastic uterus, infantile uterus, pubescent uterus, rudimentary uterus, small uterus, underdeveloped uterus, uterine hypoplasia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Underdevelopment of the uterus." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=120575
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ConceptID=C0266399
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Uterine hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120575</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0266399</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hypoplasia of the uterus; Infantile uterus</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital uterine hypoplasia (35850006); Infantile uterus (35850006); Congenital small uterus (35850006); Pubescent uterus (35850006); Congenital hypoplasia of uterus (35850006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000013">HP:0000013</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015843" target="_blank">MONDO:0015843</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180139">ORPHA180139</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Underdevelopment of the uterus. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Uterine hypoplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869393" ref="tree=MeSH" title="MedGen record for Abnormality of the female genitalia">Abnormality of the female genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/871402" ref="tree=MeSH" title="MedGen record for Abnormal morphology of female internal genitalia">Abnormal morphology of female internal genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/78598" ref="tree=MeSH" title="MedGen record for Congenital uterine anomaly">Congenital uterine anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/870205" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the uterus">Aplasia/hypoplasia of the uterus</a></span><ul><li><span class="matched_ds">Uterine hypoplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18099&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Uterine hypoplasia</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_66312"><div><strong>Blepharophimosis, ptosis, and epicanthus inversus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66312</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82783"><div><strong>Deficiency of steroid 11-beta-monooxygenase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82783</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82783">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83337"><div><strong>Woodhouse-Sakati syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral postlingual sensorineural hearing loss, and mild intellectual disability. To date, more than 40 families (including 33 with a molecularly confirmed diagnosis) with a total of 88 affected individuals have been reported in the literature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163204"><div><strong>Peters plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163204</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163204">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163210"><div><strong>Linear skin defects with multiple congenital anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318679"><div><strong>Matthew-Wood syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318679</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318882"><div><strong>Satoyoshi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318882</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1833454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318882">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373230"><div><strong>Premature ovarian failure 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373230</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Premature ovarian failure-3 (POF3) is characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations (summary by Harris et al., 2002). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373230">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336903"><div><strong>Ovarian dysgenesis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336903">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383876"><div><strong>46,XY sex reversal 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383876</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383876">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347328"><div><strong>Hypogonadotropic hypogonadism 12 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347328</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1856897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347328">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394115"><div><strong>Premature ovarian failure 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394115</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_411414"><div><strong>46,XX sex reversal 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411414</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2749215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/411414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414115"><div><strong>Premature ovarian failure 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414115</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_416704"><div><strong>46,XY sex reversal 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>416704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2752149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sex reversal in an individual associated with a 9p24.3 deletion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/416704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_461449"><div><strong>Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461449</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/461449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_483746"><div><strong>46,XY sex reversal 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483746</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3489793</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483746">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762090"><div><strong>Hypogonadotropic hypogonadism 13 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762090</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3541462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762090">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766755"><div><strong>Hypogonadotropic hypogonadism 8 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766755</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766755">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766784"><div><strong>Seckel syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766784</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3553870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_814744"><div><strong>Perrault syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814744</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3808414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814744">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815435"><div><strong>Perrault syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815435">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815580"><div><strong>Estrogen resistance syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815580</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862965"><div><strong>Intellectual disability, autosomal dominant 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862965</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4014528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized by mildly impaired intellectual development and microcephaly. Patients may also have ocular malformations, ocular apraxia, or hypogonadotropic hypogonadism. The disorder shows a unique DNA methylation signature (summary by Al-Jawahiri et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862965">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864138"><div><strong>Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864138</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904735"><div><strong>Acromesomelic dysplasia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromesomelic dysplasia-3 (AMD3) is an autosomal recessive osteochondrodysplasia characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes. When present, genital anomalies include absent ovaries, hypoplastic uterus, hypergonadotropic hypogonadism, and primary amenorrhea (summary by Stange et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_931237"><div><strong>Mayer-Rokitansky-Küster-Hauser syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>931237</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4305568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/931237">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1393321"><div><strong>Premature ovarian failure 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1393321</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4479510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Premature ovarian failure-13 (POF13) is characterized by female infertility due to secondary amenorrhea in the third decade of life. Patients exhibit atrophic ovaries devoid of follicles (Guo et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1393321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1391447"><div><strong>Perrault syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1391447</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4479656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1391447">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1627972"><div><strong>Ovarian dysgenesis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627972</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4540141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1627972">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641618"><div><strong>Microcephaly 20, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648307"><div><strong>Ovarian dysgenesis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Ovarian dysgenesis-6 (ODG6) is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and small or absent ovaries on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015; Tucker et al., 2022). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648307">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648458"><div><strong>Ovarian dysgenesis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1679397"><div><strong>Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679397</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myoectodermal gonadal dysgenesis syndrome (MEGD) is characterized by 46,XY complete or partial gonadal dysgenesis, or 46,XX gonadal dysgenesis, in association with extragonadal anomalies, including low birth weight, typical facies, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. Dysmorphic facial features along with muscular habitus are the hallmarks of the syndrome. Abnormal hair patterning with frontal upsweep and additional whorls, eyebrow abnormalities comprising broad, arched, and sparse or thick eyebrows, underdeveloped alae nasi, smooth philtrum, and low-set ears with overfolded helices facilitate a gestalt diagnosis. (Guran et al., 2019; Altunoglu et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1679397">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1754257"><div><strong>AMED syndrome, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1754257</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5436906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020). For a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 (614675).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1754257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785989"><div><strong>Premature ovarian failure 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Premature ovarian failure-18 (POF18) is characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small; ovaries may be small or rudimentary, and do not show follicular activity (Fan et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785989">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794256"><div><strong>Ovarian dysgenesis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794256</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794256">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1797978"><div><strong>Mayer Rokitansky Kuster Hauser syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1797978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5566555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1797978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1844082"><div><strong>Autosomal dominant popliteal pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844082</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5848052</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1844082">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_411414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XX sex reversal 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_416704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">46,XY sex reversal 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelic dysplasia 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (40)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1754257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">AMED syndrome, digenic</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant popliteal pterygium syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis, ptosis, and epicanthus inversus syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of steroid 11-beta-monooxygenase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Estrogen resistance syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679397" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 12 with or without anosmia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 13 with or without anosmia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 8 with or without anosmia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 27</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear skin defects with multiple congenital anomalies 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Matthew-Wood syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1797978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer Rokitansky Kuster Hauser syndrome type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_931237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mayer-Rokitansky-Küster-Hauser syndrome type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 20, primary, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1627972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian dysgenesis 9</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_814744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1391447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perrault syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peters plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1393321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian failure 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian failure 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian failure 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian failure 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian failure 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Satoyoshi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Woodhouse-Sakati syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37460365">Oxytocin: physiology, pharmacology, and clinical application for labor management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hermesch AC,
|
||
Kernberg AS,
|
||
Layoun VR,
|
||
Caughey AB</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2024 Mar;230(3S):S729-S739.
|
||
Epub 2023 Jul 16
|
||
doi: 10.1016/j.ajog.2023.06.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37460365" target="_blank">37460365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35026129">Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lees CC,
|
||
Romero R,
|
||
Stampalija T,
|
||
Dall'Asta A,
|
||
DeVore GA,
|
||
Prefumo F,
|
||
Frusca T,
|
||
Visser GHA,
|
||
Hobbins JC,
|
||
Baschat AA,
|
||
Bilardo CM,
|
||
Galan HL,
|
||
Campbell S,
|
||
Maulik D,
|
||
Figueras F,
|
||
Lee W,
|
||
Unterscheider J,
|
||
Valensise H,
|
||
Da Silva Costa F,
|
||
Salomon LJ,
|
||
Poon LC,
|
||
Ferrazzi E,
|
||
Mari G,
|
||
Rizzo G,
|
||
Kingdom JC,
|
||
Kiserud T,
|
||
Hecher K</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2022 Mar;226(3):366-378.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1016/j.ajog.2021.11.1357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35026129" target="_blank">35026129</a><a href="/pmc/articles/PMC9125563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32127135">Diagnosis and treatment of müllerian malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Passos IMPE,
|
||
Britto RL</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2020 Mar;59(2):183-188.
|
||
doi: 10.1016/j.tjog.2020.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32127135" target="_blank">32127135</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(uterine%20hypoplasia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (552)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35253374">A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sezer A,
|
||
Perçin FE,
|
||
Kazan HH,
|
||
Kayhan G,
|
||
Akturk M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Jun;188(6):1890-1895.
|
||
Epub 2022 Mar 6
|
||
doi: 10.1002/ajmg.a.62713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35253374" target="_blank">35253374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30611420">Classic congenital adrenal hyperplasia and its impact on reproduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes LG,
|
||
Bachega TASS,
|
||
Mendonca BB</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2019 Jan;111(1):7-12.
|
||
doi: 10.1016/j.fertnstert.2018.11.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30611420" target="_blank">30611420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21371805">Post-abortion hysteroscopy: a method for early diagnosis of congenital and acquired intrauterine causes of abortions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cogendez E,
|
||
Dolgun ZN,
|
||
Sanverdi I,
|
||
Turgut A,
|
||
Eren S</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2011 May;156(1):101-4.
|
||
Epub 2011 Mar 2
|
||
doi: 10.1016/j.ejogrb.2010.12.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21371805" target="_blank">21371805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18182450">Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Philibert P,
|
||
Biason-Lauber A,
|
||
Rouzier R,
|
||
Pienkowski C,
|
||
Paris F,
|
||
Konrad D,
|
||
Schoenle E,
|
||
Sultan C</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2008 Mar;93(3):895-900.
|
||
Epub 2008 Jan 8
|
||
doi: 10.1210/jc.2007-2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18182450" target="_blank">18182450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17482176">Diagnosis of Mullerian anomalies in adults: evaluation of practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazouni C,
|
||
Girard G,
|
||
Deter R,
|
||
Haumonte JB,
|
||
Blanc B,
|
||
Bretelle F</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2008 Jan;89(1):219-22.
|
||
Epub 2007 May 4
|
||
doi: 10.1016/j.fertnstert.2007.02.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17482176" target="_blank">17482176</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Uterine%20hypoplasia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33076674">Fatal consequences of uterine rupture in late pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henrieta Š,
|
||
Peter O,
|
||
Ubomír M,
|
||
Ján Š,
|
||
Jozef Š</span><br />
|
||
<span class="medgenPMjournal">Soud Lek</span>
|
||
2020 Summer;65(3):65-66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33076674" target="_blank">33076674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32067224">Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathorne SW,
|
||
Ravn P,
|
||
Hansen D,
|
||
Beck-Nielsen SS,
|
||
Gjørup H,
|
||
Sørensen KP,
|
||
Fagerberg CR</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 May;97(5):779-784.
|
||
Epub 2020 Feb 24
|
||
doi: 10.1111/cge.13725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32067224" target="_blank">32067224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30611420">Classic congenital adrenal hyperplasia and its impact on reproduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes LG,
|
||
Bachega TASS,
|
||
Mendonca BB</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2019 Jan;111(1):7-12.
|
||
doi: 10.1016/j.fertnstert.2018.11.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30611420" target="_blank">30611420</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7933009">Case of the day. 7. Diagnosis: Turner's syndrome with uterine hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neal MR,
|
||
Angtuaco TL,
|
||
Shah HR</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
1994 Apr;13(4):339-40.
|
||
doi: 10.7863/jum.1994.13.4.339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7933009" target="_blank">7933009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2202012">Müllerian duct anomalies: MR imaging evaluation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrington BM,
|
||
Hricak H,
|
||
Nuruddin RN,
|
||
Secaf E,
|
||
Laros RK Jr,
|
||
Hill EC</span><br />
|
||
<span class="medgenPMjournal">Radiology</span>
|
||
1990 Sep;176(3):715-20.
|
||
doi: 10.1148/radiology.176.3.2202012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2202012" target="_blank">2202012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Uterine%20hypoplasia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10920101">Operative hysteroscopy for infertility using normal saline solution and a coaxial bipolar electrode: a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez H,
|
||
Gervaise A,
|
||
de Tayrac R</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2000 Aug;15(8):1773-5.
|
||
doi: 10.1093/humrep/15.8.1773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10920101" target="_blank">10920101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1137707">Endometrial carcinoma after cyclical oestrogen-progestogen therapy for Turner's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarroll AM,
|
||
Montgomery DA,
|
||
Harley JM,
|
||
McKeown EF,
|
||
MacHenry JC</span><br />
|
||
<span class="medgenPMjournal">Br J Obstet Gynaecol</span>
|
||
1975 May;82(5):421-3.
|
||
doi: 10.1111/j.1471-0528.1975.tb00659.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1137707" target="_blank">1137707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5008627">Depot estrogen as a monthly contraceptive in nulliparous women with mild uterine hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">el-Mahgoub S,
|
||
Karim M</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1972 Feb 15;112(4):575-6.
|
||
doi: 10.1016/0002-9378(72)90319-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5008627" target="_blank">5008627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14368390">A preliminary series of cases of uterine hypoplasia treated by local injection of an oestrogenic emulsion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">FIELD-RICHARDS S</span><br />
|
||
<span class="medgenPMjournal">J Obstet Gynaecol Br Emp</span>
|
||
1955 Apr;62(2):205-13.
|
||
doi: 10.1111/j.1471-0528.1955.tb14121.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14368390" target="_blank">14368390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Uterine%20hypoplasia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35253374">A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sezer A,
|
||
Perçin FE,
|
||
Kazan HH,
|
||
Kayhan G,
|
||
Akturk M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Jun;188(6):1890-1895.
|
||
Epub 2022 Mar 6
|
||
doi: 10.1002/ajmg.a.62713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35253374" target="_blank">35253374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33076674">Fatal consequences of uterine rupture in late pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Henrieta Š,
|
||
Peter O,
|
||
Ubomír M,
|
||
Ján Š,
|
||
Jozef Š</span><br />
|
||
<span class="medgenPMjournal">Soud Lek</span>
|
||
2020 Summer;65(3):65-66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33076674" target="_blank">33076674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17482176">Diagnosis of Mullerian anomalies in adults: evaluation of practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazouni C,
|
||
Girard G,
|
||
Deter R,
|
||
Haumonte JB,
|
||
Blanc B,
|
||
Bretelle F</span><br />
|
||
<span class="medgenPMjournal">Fertil Steril</span>
|
||
2008 Jan;89(1):219-22.
|
||
Epub 2007 May 4
|
||
doi: 10.1016/j.fertnstert.2007.02.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17482176" target="_blank">17482176</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10920101">Operative hysteroscopy for infertility using normal saline solution and a coaxial bipolar electrode: a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez H,
|
||
Gervaise A,
|
||
de Tayrac R</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2000 Aug;15(8):1773-5.
|
||
doi: 10.1093/humrep/15.8.1773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10920101" target="_blank">10920101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9241280">Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshizawa T,
|
||
Handa Y,
|
||
Uematsu Y,
|
||
Takeda S,
|
||
Sekine K,
|
||
Yoshihara Y,
|
||
Kawakami T,
|
||
Arioka K,
|
||
Sato H,
|
||
Uchiyama Y,
|
||
Masushige S,
|
||
Fukamizu A,
|
||
Matsumoto T,
|
||
Kato S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1997 Aug;16(4):391-6.
|
||
doi: 10.1038/ng0897-391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9241280" target="_blank">9241280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Uterine%20hypoplasia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37656189">A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iwanaga Y,
|
||
Tsuji K,
|
||
Nishimura A,
|
||
Tateishi K,
|
||
Kakiuchi M,
|
||
Tsuji T</span><br />
|
||
<span class="medgenPMjournal">Mamm Genome</span>
|
||
2023 Dec;34(4):559-571.
|
||
Epub 2023 Sep 1
|
||
doi: 10.1007/s00335-023-10016-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37656189" target="_blank">37656189</a><a href="/pmc/articles/PMC10627917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35253374">A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sezer A,
|
||
Perçin FE,
|
||
Kazan HH,
|
||
Kayhan G,
|
||
Akturk M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Jun;188(6):1890-1895.
|
||
Epub 2022 Mar 6
|
||
doi: 10.1002/ajmg.a.62713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35253374" target="_blank">35253374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35140041">The surgical strategies of vaginoplasty for vaginal agenesis patients with or without functional uterus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu M,
|
||
Dai H,
|
||
Li Q,
|
||
Wang Y,
|
||
Xu M,
|
||
Hao Q,
|
||
Xu X,
|
||
Zhong X,
|
||
Fang S,
|
||
Sun M,
|
||
Xu J,
|
||
Xue C</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2022 Jun;75(6):1964-1970.
|
||
Epub 2022 Jan 22
|
||
doi: 10.1016/j.bjps.2022.01.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35140041" target="_blank">35140041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23271504">MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kara T,
|
||
Acu B,
|
||
Beyhan M,
|
||
Gökçe E</span><br />
|
||
<span class="medgenPMjournal">Diagn Interv Radiol</span>
|
||
2013 May-Jun;19(3):227-32.
|
||
doi: 10.4261/1305-3825.DIR.6341-12.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23271504" target="_blank">23271504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9241280">Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshizawa T,
|
||
Handa Y,
|
||
Uematsu Y,
|
||
Takeda S,
|
||
Sekine K,
|
||
Yoshihara Y,
|
||
Kawakami T,
|
||
Arioka K,
|
||
Sato H,
|
||
Uchiyama Y,
|
||
Masushige S,
|
||
Fukamizu A,
|
||
Matsumoto T,
|
||
Kato S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1997 Aug;16(4):391-6.
|
||
doi: 10.1038/ng0897-391.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9241280" target="_blank">9241280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Uterine%20hypoplasia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=180139" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Uterine%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(uterine%20hypoplasia)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
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|
||
|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Uterine%20hypoplasia" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/20184/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
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<div class="portlet brieflink">
|
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<div class="portlet_head">
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|
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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||
<li>
|
||
<a href="/pubmed/clinical?term=Uterine%20hypoplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Uterine%20hypoplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=120575" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=120575" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=120575" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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|
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<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d0b8faa68b6b5afc0966ce">Uterine hypoplasia</a>
|
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<div class="ralinkpop offscreen_noflow">Uterine hypoplasia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
|
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d0b8f7a68b6b5afc0960f5">C0266399[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<li class="ra_qry ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d0b8f6b15b832ebca9f6f8">C3553471[trait identifier] AND "Talkowski Laboratory, Center for ... <span class="number">(1)</span></a>
|
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<div class="ralinkpop offscreen_noflow">C3553471[trait identifier] AND "Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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